Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004856C>G , CM000685.2:g.25004856C>G | GRCh38 |
| NC_000023.10:g.25022973C>G , CM000685.1:g.25022973C>G | GRCh37 |
| NC_000023.9:g.24932894C>G | NCBI36 |
| NG_008281.1:g.16093G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1503G>C MANE Select | ENSP00000368332.4:p.Leu501= | |
| ENST00000379044.4:c.1503G>C | ENSP00000368332.4:p.Leu501= | |
| NM_139058.2:c.1503G>C | NP_620689.1:p.Leu501= | |
| NM_139058.3:c.1503G>C MANE Select | NP_620689.1:p.Leu501= |